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. 1976 Oct;13(5):366–370. doi: 10.1136/jmg.13.5.366

Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.

A M Vianna-Morgante, M J Nozaki, C C Ortega, V Coates, Y Yamamura
PMCID: PMC1013442  PMID: 1003448

Abstract

A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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